Canonical Allele Identifier: CA377336987
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78002233T>G , CM000672.2:g.78002233T>G GRCh38
NC_000010.10:g.79761991T>G , CM000672.1:g.79761991T>G GRCh37
NC_000010.9:g.79431997T>G NCBI36
NG_029648.1:g.32308A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698727.1:n.1383A>C
ENST00000698728.1:n.1902A>C
ENST00000698729.1:n.3448A>C
ENST00000698730.1:n.3448A>C
ENST00000698731.1:c.2182A>C ENSP00000513898.1:p.Asn728His
ENST00000698732.1:c.*1184A>C ENSP00000513899.1:n.*1184A>C
ENST00000698733.1:c.*1510A>C ENSP00000513900.1:n.*1510A>C
ENST00000698734.1:c.2323A>C ENSP00000513901.1:p.Asn775His
ENST00000698735.1:n.2438A>C
ENST00000698736.1:n.2438A>C
ENST00000698737.1:n.2438A>C
ENST00000698738.1:n.2438A>C
ENST00000698739.1:n.2438A>C
ENST00000372371.8:c.2323A>C MANE Select ENSP00000361446.3:p.Asn775His
ENST00000372371.7:c.2323A>C ENSP00000361446.3:p.Asn775His
ENST00000472014.5:n.469+2483A>C
ENST00000473588.2:c.986A>C
NM_007055.3:c.2323A>C NP_008986.2:p.Asn775His
NM_007055.4:c.2323A>C MANE Select NP_008986.2:p.Asn775His